Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554570706
rs1554570706
FGFR1
0.925 0.200 8 38429808 missense variant G/A snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 1.000 16 2003 2017
dbSNP: rs121909628
rs121909628
FGFR1
0.925 0.160 8 38414892 stop gained G/A;C snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 1.000 15 2003 2015
dbSNP: rs121909629
rs121909629
FGFR1
0.882 0.200 8 38415905 missense variant C/T snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs121909630
rs121909630
FGFR1
0.925 0.160 8 38428043 missense variant C/A snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs121909635
rs121909635
FGFR1
0.827 0.240 8 38426158 missense variant C/T snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 1.000 15 2003 2015
dbSNP: rs121909638
rs121909638
FGFR1
0.882 0.280 8 38421853 missense variant A/G snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs121909640
rs121909640
FGFR1
0.925 0.160 8 38429898 missense variant C/T snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 1.000 15 2003 2015
dbSNP: rs121909641
rs121909641
FGFR1
0.763 0.520 8 38419720 missense variant G/A snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 1.000 15 2003 2015
dbSNP: rs121909642
rs121909642
FGFR1
0.925 0.160 8 38414174 missense variant G/A snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs121909644
rs121909644
FGFR1
0.925 0.160 8 38413795 missense variant C/A;T snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 1.000 15 2003 2015
dbSNP: rs121909645
rs121909645
FGFR1
0.925 0.240 8 38424696 missense variant C/G;T snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 1.000 15 2003 2015
dbSNP: rs397515445
rs397515445
FGFR1
0.807 0.280 8 38414263 missense variant T/C snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs397515446
rs397515446
FGFR1
0.925 0.160 8 38414599 missense variant C/T snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs886037634
rs886037634
FGFR1
0.925 0.160 8 38421836 missense variant C/T snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs121909631
rs121909631
FGFR1
0.827 0.280 8 38419696 missense variant T/C snv
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		0.800 1.000 2 2005 2006
dbSNP: rs121909634
rs121909634
FGFR1
1.000 0.080 8 38419676 missense variant A/G snv
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		0.800 1.000 2 2005 2006
dbSNP: rs1554570706
rs1554570706
FGFR1
0.925 0.200 8 38429808 missense variant G/A snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.700 1.000 2 2006 2017
dbSNP: rs397515481
rs397515481
FGFR1
1.000 0.280 8 38428048 missense variant A/G snv
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 1.000 2 2013 2014
dbSNP: rs398122945
rs398122945
FGFR1
1.000 0.280 8 38414164 missense variant C/T snv
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 1.000 2 2013 2014
dbSNP: rs398122946
rs398122946
FGFR1
1.000 0.280 8 38414889 missense variant C/A snv
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 1.000 2 2013 2014
dbSNP: rs869025669
rs869025669
FGFR1
1.000 0.280 8 38427970 missense variant A/G snv
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 1.000 2 2013 2014
dbSNP: rs869025670
rs869025670
FGFR1
1.000 0.280 8 38417954 missense variant C/G;T snv
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 1.000 2 2013 2014
dbSNP: rs869025671
rs869025671
FGFR1
1.000 0.280 8 38414876 missense variant C/G snv
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 1.000 2 2013 2014
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		0.810 1.000 2 2009 2018
dbSNP: rs1057519898
rs1057519898
FGFR1
0.851 0.120 8 38417333 missense variant T/C snv
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.700 1.000 1 2016 2016